Disease: Charcot-Marie-Tooth disease
- <em>PRPS1</em>-associated retinopathy: a diagnostic odyssey
- 3D Analysis of Joint-Sparing Charcot-Marie-Tooth Surgery Effect on Initial Standing Foot Alignment
- A case report of peroneal muscle atrophy type 2A2 with central nervous system involvement as initial presentation
- A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy
- A missense mutation in human INSC causes peripheral neuropathy
- A Novel Heterozygous <em>De Novo MORC2</em> Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder
- A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient
- A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P
- A novel variant in the GNE gene in a Malian patient presenting with distal myopathy
- A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A
- Activation of XBP1s attenuates disease severity in models of proteotoxic Charcot-Marie-Tooth type 1B
- Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
- An 8-month adapted motor activity program in a young CMT1A male patient
- Anesthetic Management of Coronary Artery Bypass Grafting in a Patient with Charcot-Marie-Tooth Disease and Multivessel Coronary Artery Disease
- Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy
- Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy
- Case Report: A new case of <em>YARS1</em>-associated autosomal recessive disorder with compound heterozygous and concurrent 47, XXY
- Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot-Marie-Tooth disease
- Case report: Chronic inflammatory demyelinating polyneuropathy superimposed on Charcot-Marie-tooth type 1A disease after SARS-CoV-2 vaccination and COVID-19 infection
- Charcot-Marie-Tooth Disease
- Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives
- Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy
- Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease
- Clinical, neurophysiological evaluation and genetic features of axonal Charcot-Marie-Tooth disease in a Chinese family
- Clinicopathologic features of two unrelated autopsied patients with Charcot-Marie-Tooth disease carrying MFN2 gene mutation
- CMT2A-linked MFN2 mutation, T206I promotes mitochondrial hyperfusion and predisposes cells towards mitophagy
- Cochlear Implantation in Charcot-Marie-Tooth Patients: Speech Perception and Quality of Life
- Cochlear implantation in patients with Charcot-Marie-Tooth disease: two cases with a review of the literature
- Correction to: A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A
- Correction to: C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot-Marie-Tooth disease in a knockout mouse model
- Development of a functional outcome measure for riboflavin transporter deficiency
- Diagnostic neuromuscular ultrasound to confirm clinical significance of a genetic variant for Charcot-Marie-Tooth type 4C: A case report
- Diagnostic value of lower extremity ultrasonographic nerve enlargement for differentiating demyelinating Charcot-Marie-Tooth disease from chronic inflammatory demyelinating polyneuropathy
- Disease Mechanisms and Therapeutic Approaches in SMARD1-Insights from Animal Models and Cell Models
- Disruption of Neuromuscular Junction Following Spinal Cord Injury and Motor Neuron Diseases
- Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases
- Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement
- Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum
- Establishing a human-induced pluripotent stem cell line (SMUSHi003-A) from a patient with Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis
- Evolutionary analysis and biological characterization of a novel alphabaculovirus isolated from <em>Mythimna separata</em>
- Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease
- Expanding the Molecular Spectrum of <em>HK1</em>-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran
- Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran
- Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review
- Fibril structures of TFG protein mutants validate the identification of TFG as a disease-related amyloid protein by the IMPAcT method
- Foot surgery for adults with Charcot-Marie-Tooth disease
- Generation of one induced pluripotent stem cell line JUCGRMi004-A from a Charcot-Marie-Tooth disease type 1A (CMT1A) patient with PMP22 duplication
- Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 gene
- Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children
- Hip Dysplasia in a Patient in Late Adolescence With Charcot-Marie-Tooth and Multiple Acyl-CoA Dehydrogenase Deficiency
- Home-based multi-sensory and proximal strengthening program to improve balance in Charcot-Marie-Tooth disease Type 1A: A proof of concept study
- HSPB1 mutation causing distal Hereditary Motor Neuropathy type 2B in a Polish family
- Improvement of Charcot-Marie-Tooth Phenotype with a Nanocomplex Treatment in Two Transgenic Models of CMT1A
- Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A
- Knockdown of SIRT2 Rescues YARS-induced Charcot-Marie-Tooth Neuropathy in Drosophila
- Knockout of PA200 improves proteasomal degradation and myelination in a proteotoxic neuropathy
- Lack of effect from genetic deletion of Hdac6 in a humanized mouse model of CMT2D
- Late Onset of Severe Demyelinating Peripheral Neuropathy in a 62-Year-Old African American Woman
- Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A
- Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype
- Morc2a variants cause hydroxyl radical-mediated neuropathy and are rescued by restoring GHKL ATPase
- Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure
- Necrotizing Fasciitis in Charcot-Marie-Tooth Treated with Debridement, Free Flap, and Extra-Articular Reconstruction
- Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination
- Neurofilaments in health and Charcot-Marie-Tooth disease
- Neuromuscular monitoring of a patient with Charcot-Marie-Tooth disease; which monitoring technique is adequate? - A case report and literature review
- Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound
- New perspectives for gene therapy of the X-linked form of Charcot-Marie-Tooth disease
- Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes
- Novel variant in <em>CADM3</em> causes Charcot-Marie-Tooth disease
- Novel variant in CADM3 causes Charcot-Marie-Tooth disease
- One-Year Longitudinal Assessment of Patients With CMT1A Using Quantitative MRI
- Parent-proxy pediatric CMT quality of life outcome measure: Validation of the Italian version
- Peripheral Neuropathy and Decreased Locomotion of a <em>RAB40B</em> Mutation in Human and Model Animals
- Preclinical Efficacy of Peripheral Nerve Regeneration by Schwann Cell-like Cells Differentiated from Human Tonsil-Derived Mesenchymal Stem Cells in C22 Mice
- Preclinical translational platform of neuroinflammatory disease biology relevant to neurodegenerative disease
- Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study
- Prognostic value of neurofilament light in blood in patients with polyneuropathy: A systematic review
- Prolonged Duration of Peripheral Nerve Blockade in a Pediatric Patient with Charcot Marie Tooth Disease: A Case Report
- Quantified fat fraction as biomarker assessing disease severity in rare Charcot-Marie-Tooth subtypes
- Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A
- Remediation of Perceptual Deficits in Progressive Auditory Neuropathy: A Case Study
- Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature
- Roussy-Lévy Syndrome: Pes Cavus, Tendon Areflexia, Amyotrophy, Gait Ataxia, and Upper Limb Tremor in a Patient with CMT Neuropathy
- Short-term effects of foot surgery on walking-related pain, function, and satisfaction in patients with Charcot-Marie-Tooth disease: a prospective cohort study
- Skeletal muscle involvement in biallelic <em>SORD</em> mutations: case report and review of the literature
- SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights
- Targeting muscle to treat Charcot-Marie-Tooth disease
- Targeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases
- Testing SIPA1L2 as a modifier of CMT1A using mouse models
- The contribution and therapeutic implications of IGHMBP2 mutations on IGHMBP2 biochemical activity and ABT1 association
- The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering
- The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics
- The Regentime stem cell procedure, successful treatment for a Charcot-Marie-Tooth disease case
- Upper and lower limb tremor in Charcot-Marie-Tooth neuropathy type 1A and the implications for standing balance
- Upper Limbs Muscle Co-Contraction Changes Correlate With The Physical Motor Impairments in CMT
- Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies
- Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease
- X-linked Charcot Marie Tooth mutations alter CO(2) sensitivity of connexin32 hemichannels
- X-linked Charcot Marie Tooth mutations alter CO<sub>2</sub> sensitivity of connexin32 hemichannels